Methodology article
Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
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* Corresponding authors: Andreas Lengeling lengeling@gbf.de - Shoumo Bhattacharya sbhattac@well.ox.ac.uk
1 Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN UK
2 German Research Centre for Biotechnology, Division of Microbiology, Junior Research Group Infection Genetics, Mascheroder Weg 1, 38124 Braunschweig, Germany
3 Department of Pathology, School of Veterinary Medicine Hannover, Bünteweg 17, 30559 Hannover, Germany
4 Department of Physiology, University of Oxford, Parks Road, Oxford OX1 3PT UK
BMC Developmental Biology 2004, 4:16 doi:10.1186/1471-213X-4-16
Published: 22 December 2004Abstract
Background
Congenital heart defects are the leading non-infectious cause of death in children. Genetic studies in the mouse have been crucial to uncover new genes and signaling pathways associated with heart development and congenital heart disease. The identification of murine models of congenital cardiac malformations in high-throughput mutagenesis screens and in gene-targeted models is hindered by the opacity of the mouse embryo.
Results
We developed and optimized a novel method for high-throughput multi-embryo magnetic resonance imaging (MRI). Using this approach we identified cardiac malformations in phosphatidylserine receptor (Ptdsr) deficient embryos. These included ventricular septal defects, double-outlet right ventricle, and hypoplasia of the pulmonary artery and thymus. These results indicate that Ptdsr plays a key role in cardiac development.
Conclusions
Our novel multi-embryo MRI technique enables high-throughput identification of murine models for human congenital cardiopulmonary malformations at high spatial resolution. The technique can be easily adapted for mouse mutagenesis screens and, thus provides an important new tool for identifying new mouse models for human congenital heart diseases.